Description of children with 45,X/46,XY karyotype.

We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material.

Long-term psychosocial adjustments, satisfaction related to gender and the family equations in disorders of sexual differentiation with male sex assignment.

PURPOSE: The varied management and counseling in disorders of sexual differentiation (DSD) depends a lot on the socioeconomic structure. A follow-up study was designed to evaluate the outcome in terms of patient satisfaction with strong socio-cultural issues. METHOD: Of the 1,134 DSD patients being followed up in pediatric intersex clinic, 60 adolescents and adults assigned male sex in childhood were called for follow-up. They were interviewed for psychosocial and family adjustments including level of acceptance of gender, social relationships and future expectations. RESULTS: The ages ranged from 15 to 25 years (mean, 19.3 ± 3.7 years). The disorders were male pseudo hermaphrodite (MPH)-43, mixed gonadal dysgenesis (MGD)-3, true hermaphrodite (TH)-7 and congenital adrenal hyperplasia (CAH)-7. Of all patients, 85% (51/60) felt satisfied with their gender assignment; 76.9% (46/60) did not feel comfortable with the opposite sex. Penile erections; ejaculation and masculine voice were present in 53, 44 and 47 patients. Facial hair was normal; sparse and absent in 16, 26 and 18 patients, respectively. Stretched penile length was 2.5-9 cm (median, 5.5 cm) and 16/60 patients were satisfied with their penile length; 28 patients required redo surgeries for scrotum diverticulum (1), proximal penile diverticulum (1), stricture urethra (2), hair in the urethra (3), vaginal pouch dilatation (1), orchiopexy (2), residual chordee correction (3), distal urethroplasty (4), urethral fistula repair (21), mastectomy (6) and testicular prosthesis (4). Family support was available to all 85% (51/60) of the patients who had good family relationships. However, only 15% (9/60) felt that they fitted into society. Peer relationships were considered 'good' by 43/60 and poor by 17/60. Two patients had got married and 44.8% (26/58) patients would consider marriage in future. Most patients (42/60) were worried about the smaller size of the phallus and lack of adequate semen, leading to apprehension before marriage. As much as 15 patients had jobs, 15 attended school, 3 attended colleges and 17 illiterate patients were dependent on their families. CONCLUSIONS: Despite moral, social and economic support provided by the parents, children with DSD continue to have apprehensions in social adjustments.

Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis.

This is a report of a 13-year-old 45,X/46,XY patient who was assigned as female gender and had feminizing surgery during infancy. Psychological problems became progressively more severe from childhood to incapitation by age 13 years. Gender identity reversal was performed after extensive physiological testing. Because he wanted to have corrective surgery, his external genitalia sex reassignment was made male from female. There were surgical problems with his phalloplasty; after surgery at infancy there was reduction of the phallus with recession of the glans to the typical clitoral location. Genital response during sexual activity and satisfaction after reconstructive surgery for male genitalia are as yet unknown. This patient is a typical example for medical, psychological and surgical dilemmas of sex reassignment and the problems of early corrective surgery. Sufficient brain virilisation associated with undervirilised external genitalia is an important problem for assignment of gender identity.

A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis.

STUDY OBJECTIVE: To provide late adolescent and young adult psychosexual follow-up information on a consecutive series of patients with either mixed or partial gonadal dysgenesis. SETTING: Children's Memorial Health Institute (Warsaw, Poland). PARTICIPANTS: 19 patients (age range, 17-26 years), 9 raised as females and 10 raised as males. MEASURES: Clinical interview and psychologic tests were used to evaluate gender identity, gender role, and sexual behavior. RESULTS: All patients raised as male had a normal male gender identity, displayed masculine gender role behavior in childhood, and had a heterosexual sexual orientation. Seven of the 10 male patients had experienced heterosexual intercourse. Two out of nine women did not identify with the female gender. The majority had masculine gender role interests in childhood. The female patients were significantly less likely to have experienced sexual activity with a partner than the male patients. CONCLUSION: Although gender identity differentiated largely in accordance with sex assignment or sex of rearing in our sample, the patients reared as female appeared to have poorer sexual adjustment than the males. Cultural factors may have impacted on this latter outcome.

Gender identity reversal in an adolescent with mixed gonadal dysgenesis.

We describe a patient who was assigned female at birth because of genital ambiguity without performing further diagnostic procedures and presented at the age of 13-1/2 years because of her strong desire to change her legal sex. Karyotype was 46,XY; clinical, endocrinological, radiological and surgical work-up revealed hypergonadotropic hypogonadism and mixed gonadal dysgenesis. Gender identity reversal was performed after extensive psychological testing and adaptation of living circumstances resulting in a successful integration as a male with normal psychological and social functioning. In several surgical procedures, the streak gonad, the nonfunctional testis, and the rudimentary uterus were removed, and a penis was reconstructed from a penisoid with chorda and hypospadias. Our patient supports the idea that gender identity is imprinted prenatally by hitherto poorly understood mechanisms and that sex assignment in infants with ambiguous genitalia needs careful consideration of not solely endocrinological and anatomical data.

Case study: sex reassignment in a teenage girl.

The etiology of gender identity is explored through the case history of a teenager with intersex raised without stigmatization as a girl but who declared himself male at age 14 years. Psychological ramifications of such complex medical anomalies as ambiguous genitalia demand a role for child psychiatry.

Profile of intersex children in south India.

Thirty five children with ambiguous genitalia admitted to our centre between January 1986 to December 1991, were followed up and their clinical, laboratory and management strategies were analyzed. Most of them presented between 1 month and 2 years of age and only 2 presented in the newborn period. Sixteen were female pseudohermaphrodites. Eighteen out of 31 children were assigned female sex. One genetic female with congenital adrenal hyperplasia was assigned male sex. We practised more than one type of clitoroplasty in our centre. Parents prefer the intersex children to be reared as male possibly because of the less social stigma attached to an impotent male than to sterile female, and because males are socially independent.

Small penis and the male sexual role.

We interviewed and examined 20 patients with the primary diagnosis of micropenis in infancy. The patients were divided into 2 groups: 8 prepubertal (10 to 13 years old) and 12 postpubertal (17 to 43 years old). All but 1 had been given human chorionic gonadotropin, testosterone or cortisone during childhood. Only 1 child in the prepubertal group had a stretched penile length above the 10th percentile. All postpubertal patients were below the 10th percentile. Puberty was delayed in only 2 patients in the older group. All patients were heterosexual and they had erections and orgasms. Eleven patients had ejaculations, 9 were sexually active and reported vaginal penetration, 7 were married or cohabiting and 1 had fathered a child.

Disgenesia gonadal mixta: aspecto biopsicosocial, dignóstico y tratamiento / Mixed gonadal dysgenesis: biopsychosocial aspect, diagnosis and treatment

Se presenta el caso de una paciente con trastornos en la diferenciación sexual con personalidad psicologicosocial femenina, que por medio de la cirugía y tratamiento hormonal se ajusta al anterior sexo: se logra el desarrollo mamario grado II-III de Zeller; se refiere sangramiento genital periodico, con gran estabilidad emocional. Se pasan diapositivas y se exhibe película sobre este caso(AU)